Mutagenetix > Incidental Mutation

Incidental Mutation 'R7798:Intu'

600338

Institutional Source

Beutler Lab

Gene Symbol

Intu

Ensembl Gene

ENSMUSG00000060798

Gene Name

inturned planar cell polarity protein

Synonyms

Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik

MMRRC Submission

045648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7798 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40531286-40704774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40691929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 598 (V598A)

Ref Sequence

ENSEMBL: ENSMUSP00000088725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091186]

AlphaFold

Q059U7

Predicted Effect

probably damaging
Transcript: ENSMUST00000091186
AA Change: V598A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: V598A

Domain	Start	End	E-Value	Type
low complexity region	21	48	N/A	INTRINSIC
low complexity region	64	81	N/A	INTRINSIC
PDZ	187	269	2.09e-3	SMART
low complexity region	459	468	N/A	INTRINSIC
low complexity region	774	784	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204176

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice show defective ciliogenesis and neural tube closure, abnormal patterning of the CNS and limbs, polydactyly, edema and death by E16.5. Homozygotes for a hypomorphic allele show defective ciliation and endochondral ossification, stunted growth, polydactyly and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,135,732	N128I	probably damaging	Het
5830473C10Rik	T	C	5: 90,597,511	S608P	possibly damaging	Het
Abca13	A	G	11: 9,291,664	T1176A	probably benign	Het
Abca9	A	G	11: 110,138,179	V851A	probably benign	Het
Abcc6	C	A	7: 45,976,853	E1494*	probably null	Het
Adamts14	A	T	10: 61,271,173	V56E	probably damaging	Het
Adamts15	G	A	9: 30,904,643	T639M	probably damaging	Het
Arhgap11a	A	C	2: 113,843,335	V70G	probably damaging	Het
BC051665	A	T	13: 60,784,435	D113E	probably benign	Het
Best1	T	C	19: 9,991,671	Y227C	probably damaging	Het
Camk2b	A	G	11: 5,978,399	S447P	probably benign	Het
Ccdc88a	C	A	11: 29,477,348	Q1018K	probably benign	Het
Cfap74	T	A	4: 155,422,622	V180D		Het
Clca3a1	T	A	3: 144,757,962	T185S	probably damaging	Het
Clca3b	T	C	3: 144,828,130	S495G	probably damaging	Het
Cyb5r2	A	T	7: 107,753,948	Y96N	possibly damaging	Het
Cyp21a1	T	C	17: 34,804,321	K27E	probably benign	Het
Cyp2ab1	T	C	16: 20,312,416	E321G	probably benign	Het
Des	T	C	1: 75,362,359	I228T	probably damaging	Het
Dis3l	G	T	9: 64,341,017	P39T	probably benign	Het
Disp2	A	C	2: 118,791,879	I1031L	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,439,456		probably benign	Het
Etl4	G	A	2: 20,781,946		probably null	Het
Fgf23	A	T	6: 127,073,214	D62V	probably damaging	Het
Galnt15	C	T	14: 32,029,905	T138I	possibly damaging	Het
Ggt6	A	T	11: 72,435,541		probably benign	Het
Gm28710	T	C	5: 16,856,658	F801L	possibly damaging	Het
Gm9573	C	G	17: 35,621,254	G680A	unknown	Het
Gpr180	T	A	14: 118,153,686	V209D	probably damaging	Het
Gzma	A	T	13: 113,096,324	F78Y	probably benign	Het
Igkv8-30	A	T	6: 70,117,371	C19S	probably benign	Het
Il1r1	G	A	1: 40,310,366	V361I	probably benign	Het
Itpr2	A	G	6: 146,386,015	F471L	probably benign	Het
Kntc1	T	A	5: 123,786,294	V1081E	probably benign	Het
Kntc1	T	A	5: 123,819,117	V2163E	possibly damaging	Het
Macf1	T	C	4: 123,378,100	K6552E	probably damaging	Het
Marf1	T	C	16: 14,138,451	H842R	probably benign	Het
Mgat4b	A	G	11: 50,225,670	T10A	possibly damaging	Het
Muc5ac	T	C	7: 141,794,041		probably null	Het
Nrk	CGCAGCAGCAGCAGCAGCAGC	CGCAGCAGCAGCAGCAGC	X: 138,982,677		probably benign	Het
Nsun4	T	G	4: 116,051,174	S730R	possibly damaging	Het
Olfr1112	A	T	2: 87,192,292	I202L	probably benign	Het
Olfr1310	A	G	2: 112,008,272	F305L	probably benign	Het
Olfr351	T	C	2: 36,860,336	E4G	probably benign	Het
Olfr360	A	T	2: 37,069,174	S290C	probably damaging	Het
Olfr727	A	T	14: 50,127,438	Y287F	probably damaging	Het
Padi3	C	T	4: 140,786,439	E653K	probably benign	Het
Pde4a	A	G	9: 21,198,663	E280G	possibly damaging	Het
Phactr3	G	A	2: 178,283,910	R326H	probably benign	Het
Prob1	G	A	18: 35,653,344	P619L	possibly damaging	Het
Ptk2	G	A	15: 73,295,375	R368W	probably damaging	Het
Rgs6	A	G	12: 83,069,519	T240A	probably benign	Het
Rpa1	A	T	11: 75,312,809	Y356N	probably damaging	Het
Rxrb	T	A	17: 34,033,605	D165E	probably damaging	Het
Sco1	A	G	11: 67,053,802	T84A	possibly damaging	Het
Sepsecs	T	C	5: 52,647,189	I380V	probably benign	Het
Sfmbt1	T	A	14: 30,816,802	W793R	probably damaging	Het
Slco3a1	A	G	7: 74,318,596	S459P	probably benign	Het
Smg1	A	T	7: 118,171,939	S1503R	possibly damaging	Het
Sox2	G	A	3: 34,650,642	R76H	probably damaging	Het
Spty2d1	G	A	7: 46,996,056	S613F	probably damaging	Het
Stab2	A	T	10: 86,957,912	Y440N	probably damaging	Het
Syn3	A	G	10: 86,080,253	Y290H	probably damaging	Het
Tex15	C	T	8: 33,581,847	S2474F	possibly damaging	Het
Tgtp1	A	G	11: 48,987,332	F182S	probably benign	Het
Tmcc1	A	T	6: 116,043,578	S304R		Het
Tmem130	T	G	5: 144,743,770	K275Q	probably damaging	Het
Tmem9	C	A	1: 136,034,189	T174K	probably damaging	Het
Ttyh3	C	T	5: 140,634,783	R233Q	probably damaging	Het
Twnk	T	C	19: 45,007,668	M180T	probably benign	Het
Ube4a	A	G	9: 44,933,331	V874A	probably damaging	Het
Ugt2a3	T	C	5: 87,327,723	N350S	probably damaging	Het
Vegfa	C	T	17: 46,031,835	G19D	probably damaging	Het
Vmn2r2	C	A	3: 64,134,097	C399F	possibly damaging	Het
Vmn2r65	G	T	7: 84,946,322	P385T	probably benign	Het
Vmn2r65	A	G	7: 84,946,984	F164S	probably damaging	Het
Zcchc6	A	T	13: 59,815,575	M323K	possibly damaging	Het

Other mutations in Intu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Intu	APN	3	40664266	missense	probably benign	0.12
IGL01386:Intu	APN	3	40692587	missense	probably damaging	1.00
IGL02645:Intu	APN	3	40701272	missense	probably benign	0.01
IGL02869:Intu	APN	3	40687786	missense	probably damaging	1.00
IGL03263:Intu	APN	3	40672597	nonsense	probably null
H8562:Intu	UTSW	3	40692673	missense	probably damaging	1.00
PIT4495001:Intu	UTSW	3	40697603	missense	probably benign	0.07
R0010:Intu	UTSW	3	40654272	intron	probably benign
R0173:Intu	UTSW	3	40675346	critical splice donor site	probably null
R0426:Intu	UTSW	3	40675305	missense	probably damaging	0.97
R1566:Intu	UTSW	3	40692578	missense	probably damaging	0.99
R1619:Intu	UTSW	3	40697631	nonsense	probably null
R1658:Intu	UTSW	3	40692781	missense	probably benign	0.20
R1701:Intu	UTSW	3	40664264	missense	probably damaging	1.00
R1707:Intu	UTSW	3	40540924	missense	probably benign	0.03
R1707:Intu	UTSW	3	40683501	missense	possibly damaging	0.69
R1867:Intu	UTSW	3	40664335	missense	probably damaging	1.00
R1868:Intu	UTSW	3	40664335	missense	probably damaging	1.00
R2090:Intu	UTSW	3	40683536	missense	probably benign	0.00
R2310:Intu	UTSW	3	40653813	missense	probably benign
R2989:Intu	UTSW	3	40692710	missense	probably benign	0.11
R4168:Intu	UTSW	3	40672623	missense	probably benign	0.00
R4530:Intu	UTSW	3	40683364	missense	possibly damaging	0.95
R5093:Intu	UTSW	3	40692917	missense	probably benign	0.00
R5541:Intu	UTSW	3	40692587	splice site	probably null
R5587:Intu	UTSW	3	40675308	missense	probably damaging	0.99
R5745:Intu	UTSW	3	40692972	splice site	probably null
R5809:Intu	UTSW	3	40679590	missense	probably damaging	0.99
R5939:Intu	UTSW	3	40692584	missense	probably damaging	1.00
R5953:Intu	UTSW	3	40679550	missense	probably damaging	1.00
R6000:Intu	UTSW	3	40654148	nonsense	probably null
R6063:Intu	UTSW	3	40654094	missense	probably damaging	0.97
R6245:Intu	UTSW	3	40675326	missense	probably damaging	0.98
R6310:Intu	UTSW	3	40701291	nonsense	probably null
R6353:Intu	UTSW	3	40653708	missense	probably damaging	1.00
R6451:Intu	UTSW	3	40701293	missense	possibly damaging	0.94
R6660:Intu	UTSW	3	40531951	missense	probably benign	0.00
R6848:Intu	UTSW	3	40694255	missense	probably benign	0.00
R7440:Intu	UTSW	3	40697551	missense	probably benign	0.04
R7625:Intu	UTSW	3	40697599	missense	probably benign
R7633:Intu	UTSW	3	40654253	missense	probably damaging	1.00
R7877:Intu	UTSW	3	40699792	missense	probably benign	0.07
R7978:Intu	UTSW	3	40697639	missense	probably damaging	1.00
R8319:Intu	UTSW	3	40653772	missense	probably damaging	1.00
R8332:Intu	UTSW	3	40675289	missense	probably benign	0.35
R8860:Intu	UTSW	3	40672732	missense	probably benign	0.07
R8926:Intu	UTSW	3	40653709	missense	possibly damaging	0.69
R8946:Intu	UTSW	3	40683359	missense	possibly damaging	0.93
R9164:Intu	UTSW	3	40690703	missense	probably damaging	1.00
R9191:Intu	UTSW	3	40692511	missense	probably damaging	0.99
R9547:Intu	UTSW	3	40654106	missense	probably benign
Z1177:Intu	UTSW	3	40697516	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TGAGATCGCTGCATACTGTC -3'
(R):5'- GGGAACAAAACATCTTCAGATATCTGC -3'

Sequencing Primer
(F):5'- ATACTGTCGCCAGCACTG -3'
(R):5'- GATATCTGCTAAAAGCCTACACTGG -3'

Posted On

2019-11-26